A type 2 diabetes patient with three years of persistent abdominal pain: the culprit was variegate porphyria-a case report.

INTRODUCTION

Variegate porphyria (VP) is a rare metabolic disorder. Its diagnosis is challenging when cutaneous features are absent and symptoms overlap with common conditions like diabetic neuropathy.

CASE PRESENTATION: We report a 71-year-old female with a 30-year history of type 2 diabetes and a 3-year history of mild chronic abdominal pain and psychiatric symptoms. Extensive workup for common abdominal pathologies was negative. A positive urine sun exposure test prompted genetic analysis, which identified a heterozygous pathogenic variant in the PPOX gene (c.567A>C, p.Gln189His), confirming VP. Her mild acute attack was managed successfully with intravenous glucose and safe psychotropic agents, alongside adjusted glycemic targets to prevent catabolism.

CONCLUSION

This case underscores that VP can present atypically without skin lesions. It highlights the importance of considering VP in diabetic patients with unexplained neurovisceral symptoms and demonstrates that mild attacks can be managed with tailored supportive care.